- I always learn a lot from my patients.
But we're about to see patients
with some very unique health conditions.
Let's get started.
(child laughing)
- [Narrator] It's not easy because he has
one of the planet's rarest medical conditions.
- Which one?
- My condition is Schwartz Jampel syndrome.
- Never even heard of it.
- It's a muscle condition. - Wow.
- Where your muscles get really, really tight.
That's how I become stiff 'cause they're always working.
- This type of abnormal tone of muscles
I've seen in the elderly with dystonia
and maybe even Parkinsonism,
I've never seen in a young person.
- [Narrator] Owen's dad will notice that his son
wasn't moving like other children.
Owen visited eight doctors in eight months.
- This is why at every pediatric visit that's a physical,
we do developmental milestones
and we see how a child's developing
because in many instances we can do some early intervention,
whether that's adding a hormone, physical therapy,
behavioral modifications,
to help children reach their maximal potential.
- He has persistent muscular contraction
and you look at somebody who like Owen,
who looked like a little pocket Hercules
he's got unbelievable muscle definition
and that's really because he's, you know,
he's got isotonic contractions all the time.
- That's incredible that he has this contraction.
Imagine how you feel when you get a cramp
and imagine that going throughout your whole body.
That's the difficulty this boy's dealing with.
- [Narrator] In the small town of Schiedlberg,
Austria lives a teenager with a very rare genetic condition.
Raphael's skin grows extremely quickly
and turns into confetti like flakes.
- Oh, is this ichthyosis?
- [Translator] My condition is called ichthyosis
or the fish scale disease and I've had it since birth.
- It's really unfortunate that in the medical community
maybe to be relatable,
especially when it comes to pathology,
we name things after foods or animals
and it it can be quite problematic for patients
because they have to say they have fish skin disease
or like ichthyosis with confetti.
Like, that's not ideal For someone to say.
- [Narrator] Ichthyosis with confetti has been recorded
fewer than 20 times worldwide.
It causes abnormal quantities of keratin
in the outer layer of the skin.
- Skin, the way that it heals, the way that it functions,
is on the epidermis, which is the superficial layer of skin,
you constantly have shedding of skin
and new skin cells come up,
and that is the way that the skin normally functions.
That's why if you really test dust inside a home,
a lot of it is made up of human skin
and while you can't see it happening,
it's happening all the time.
- [Narrator] In 2008, Raphael's mother discovered
an unusual solution to treating her son's condition.
- Oh, interesting.
- [Narrator] To remove Rafael's excess skin,
at 6:30 every morning,
he's lowered into a specially made tank
containing 300 skin eating fish.
- Wow!
I've seen pedicures like this
where they have the fish chew the dead skin.
This also doesn't hurt because these are sloughed off
dead skin cells, so it's not causing him any discomfort,
at least I don't think.
- [Translator] It was worse before.
I couldn't move as much
and it was harder to clean up the scales.
This is much better for me.
- And he's feeding the fish.
It's like a win-win.
A true symbiotic relationship.
Oh.
- [Narrator] Thomas and Vincent's Headgear might look like
it's out of a science fiction movie,
but it's been developed by a team of doctors
and designed to shield them from certain death.
- [Translator] When Thomas and Vincent were nearing
their second birthday,
reddish marks appeared on their cheekbones.
- Reddish marks on a young child like that
don't necessarily point a clear picture of what's going on.
It needs to be placed within a whole host
of different differentials, like, possible diagnoses,
and only through a very thorough history,
a thorough physical, doing some lab work,
can you start narrowing down exactly what's going on.
- [Translator] We developed small cancers.
For example, I had one here on my lip.
We had others on our arms and face,
which we had to get rid of.
- [Narrator] The twins were diagnosed
with xeroderma pigmentosum, known as XP,
giving their skin a potentially fatal hypersensitivity
to ultraviolet light.
- For XP, individuals will have their cancer risk go up
10,000 times than that of a normal person
or an average person.
So if you're not shielding yourself from UV rays
your risk of cancer is almost certain.
- [Translator] We both have a scientific education
and quickly we concluded that the only possible solution
at the time was to protect them from ultraviolet rays
- And hopefully supplementation with vitamin D,
given the fact that you need sunlight to convert
vitamin D into into its active form via your kidneys.
So yeah, vitamin D supplementation's
gonna be important for them.
- [Narrator] Augustinopolis in Northern Brazil is a home
to a little girl with a condition so rare,
there have only been 50 cases reported
since the Middle Ages.
- Wow, that's very rare.
- [Narrator] Congenital hypertrichosis or werewolf syndrome.
- Again with the terrible naming of conditions.
Like, stop calling it werewolf syndrome.
First of all, there's no such thing as a werewolf.
No one is proud to carry that label
and that stigma associated with it.
Let it go.
- [Narrator] Two year old Kemilly de Souza is living
with the same affliction today.
- Well first of all,
with hypertrichosis where you have excess hair growth,
it can happen in many different ways.
Like, even hirsutism, which can come with PCOS,
can have hair growing in unusual places
for a female that you normally see on a male.
But then there's other cases where you see
it growing everywhere and that's terminal hair,
so it's gonna be darker, thicker,
as opposed to, like, that peach fuzz
that can sometimes never fall off a human
from when they're born as a child.
It's normally it's supposed to fall off.
- [Translator] There is no medication that can make
the hair fall out.
Laser treatment is the only option.
- [Narrator] Doctors begin with a test run of the laser
to see how her skin will react.
- Also, given that her skin shade is a little bit darker
there could be risks with hypopigmentation, burns.
- [Narrator] Successful removal of all her hair
will mean hundreds of treatments.
- In a lot of situations like that,
the laser, what it's doing is it's heating up
the hair follicle and actually destroying it,
and the more you destroy it, the more likely it,
like, more times you destroy,
meaning the more treatments you go in for,
the more likely you are either to cause scar tissue
or permanent damage so that you're not growing hair
in that area.
- [Narrator] Five weeks later and Kemilly is vastly improved
and already more accepted.
- Yeah, you see those burns?
I would think that with technology, it's unfortunate to say,
but I think with the technology we have here in the US
and the experience we have here in the US,
I think maybe it could have been done in ways
where it wouldn't cause that type of skin damage.
But then again, it's hard to say.
- [Narrator] Weighing in at just over 46 pounds,
he he's nearly three times the weight
of an average baby boy.
- Yeah, something's going on here
from a metabolism standpoint.
When a child is this size,
it's rarely due to just traditional overfeeding.
This is some kind of hyperphagic syndrome
where the child's eating too much
due to something in the metabolism.
- [Translator] We started to notice he was overweight
when he was three months old.
But from that moment on, his weight just kept rising.
- Generally speaking in the medical community,
we like babies to carry a little bit of excess fat.
It is good for development, it's ideal early on.
We've seen that it fosters good neurologic development.
But then when it crosses a line and it starts going past
the growth curve of the 99th percentile,
now you're putting the child at risk
for developmental issues,
from not just a musculoskeletal side of things,
but also the cardiovascular, neuromuscular.
Imagine what strain on his heart just to move
because he's carrying this much extra weight for his age.
- [Narrator] Santiago was already suffering
from life-threatening obesity related diseases,
including diabetes and hypertension.
- Everybody is expecting that it is the parents
treating him very bad
and that's the reason why he's so obese,
but it's not actually possible to feed them
into that degree of obesity.
- That's why I said it's not an overfeeding type situation.
- Santiago is suffering from a condition
called congenital leptin deficiency.
- This is a hormone that's very important
for controlling appetite.
And actually children who suffer from this
will not just overeat and have this hyperphagic state,
but as they get older they will eat in secret,
they will steal from others' food,
they will get into fights over food.
- [Narrator] A daily injection of the hormone leptin
will stop Santiago's constant hunger
and eventually his weight should be normalized.
- Isn't it incredible how much of a role
and impact hormones have on our body and that's one hormone.
There are so many hormones that are playing
these vital homeostasis controlling factors in our body.
And like a hormone to protect us from overeating,
a hormone protect us from undereating,
a hormone to make sure we're not over hydrated,
one to protect us that we're not under hydrated.
There's so many sensors within our body.
It's truly incredible that we actually continue
to function each day.
- [Narrator] Tuanzhi was born with an extremely rare
condition known as severe genu recurvatum.
- Wow, I didn't even understand exactly
when I was first looking what was going on,
but this condition is basically known
as knee hyperextension.
So when you lock out your knee,
it's really not supposed to go past 10 degrees,
and if it does, for whatever reason,
whether you have a a congenital deformity, muscle weakness,
something going on with the bone,
that's considered this condition.
- [Narrator] Her knees bend the wrong way
so she walks on the backs of her lower legs.
- This is obviously not due to a connective tissue disorder
like Ehlers-Danlos,
but I see a lot of patients who have laxity
in their ligaments can hyperextend,
and sometimes over time from standing on hyper lax ligaments
can actually develop a condition like this.
Maybe not to this degree though.
- [Narrator] Despite her disability, Tuanzhi learned to walk
and got around as best she could,
attending school where she was accepted by other students.
- That's amazing because social acceptance
is of utmost importance during childhood
and adolescent development.
I do see a lot of, and foresee,
a lot of problems for her from an infection standpoint
unless she gets adequate padding for her knees
where you can constantly have skin breaks.
And I imagine calluses would form,
but even with calluses you're gonna have issues
with infection.
- [Narrator] Tuanzhi was content with her life
until two years ago when a charity offered to fund surgery.
- We also don't know why,
but this condition is more prevalent in women.
- [Narrator] She underwent a series of scans
to help surgeons determine what could be done.
- That's of utmost importance because you need to figure out
how are you gonna reattach muscles
so that she can walk properly.
Like, what's missing if anything?
Is there a patella?
Is there a tibia?
Is there a femur?
Where are the ligaments that are present or not present?
Because you can take donor grafts
from other parts of the body and attach bones that way,
but you need to know before you go in,
otherwise the patient will be under anesthesia
for way too long and that's not ideal.
- [Translator] We will perform operations on both sides
of your knees, the ankle joints, and the soles of your feet.
Your soles are not flat,
so we need to make them flat through operations.
- [Narrator] She and her parents had to decide
if it was worth risking surgery.
- An important question everyone should ask
undergoing surgery,
because it's easy to fall into what we call
routine procedures or routine surgery.
Not blaming or throwing any specialty under the bus,
but if a surgeon's job is to operate,
they're gonna offer an operation.
It's the surgeon's job to know
when that's appropriate or not,
but I say let's take it one level further
and take the onus on ourselves to ask the question,
is it important and what happens if I don't go for surgery?
- [Narrator] A few days later,
she was brought to the OR for her first operation
where Dr. Chen attempted to straighten her right leg.
- Yeah, so based on looking at this drawing,
I could see that there is a very sharp angle
between the femur and the tibia where they normally meet.
They would have to literally cut the bone
and maybe create an artificial joint
or make use of the structures that already exist.
Again, I'm not a surgeon nor an orthopedic surgeon,
so I leave it up to specialists,
subspecialists like this.
- [Narrator] The operation is a long, complicated process,
that involves cutting a precisely measured,
triangular shaped piece of bone
from the back of Tuanzhi's lower thigh.
- [Translator] We cut and remove this piece of bone,
then adjust the thigh bone so it will become like this.
- This is like when medicine, artistry,
and engineering all coincide.
- [Narrator] Just three weeks after entering the hospital,
both of Tuanzhi's legs- - Wow.
- [Narrator] Are now straight.
Each surgery is followed by several weeks
of muscle rehabilitation to help her support
her newly structured bones.
- That type of muscular rehabilitation
is gonna be of utmost importance,
not just for increasing circulation
to the area to help it heal,
but also from a neuromuscular standpoint
so that she can learn to have good control
over these muscles and the new motions they do,
because before she's learned and taught those muscles
to fire in a way that has to completely change.
Like, biomechanically she has to change.
- [Narrator] Tuanzhi has two,
four hour operations in two weeks.
Her right foot is corrected first and then her left.
Three weeks after the fourth operation,
her feet and ankles are still supported by plaster casts
but Tuanzhi takes her first proper steps.
- That's amazing.
- [Narrator] Five months after her final operation
in Taiwan. - Which is not that long.
- Five months
- [Narrator] She was 4'2"
but has now gained 12 inches. - Wow!
- [Narrator] In height now that her legs are straight.
- [Translator] I go for a walk whenever I have time.
- Choice, control, independence,
that's what gives humans that layer of intrinsic happiness.
How can doctors miss a case of lupus?
Click here to check out this patient's story.
I hope you'll enjoy it.
And as always, stay happy and healthy.
(upbeat music)